A new syndrome: hearing loss and familial salivary gland insensitivity to aldosterone in two brothers.
Two male siblings presented in infancy with hyponatremia. The levels of plasma renin activity and aldosterone were elevated. Sodium supplement was necessary to maintain normal sodium balance. The salivary sodium concentrations were markedly elevated, with sweat sodium levels being in the upper normal range. Urinary sodium concentration and renal epithelial exchange between sodium and potassium were normal. This was felt to be due to an autosomal recessive disorder. Both siblings were later diagnosed as having a bilateral moderate to severe sensorineural hearing loss with intermittent conductive overlay due to middle ear fluid. The sensorineural loss was also felt to be autosomal recessive in origin, but the possibility of a disturbance of sodium balance in the inner ear has been questioned.
Tungland
O P
OP
Hospitals for Sick Children, London.
Savage
M O
MO
Bellman
S C
SC
D000450:Aldosterone / Q000097:blood; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007010:Hyponatremia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011546:Pseudohypoaldosteronism / Q000097:blood / Q000235:genetics*; D012083:Renin / Q000097:blood; D012466:Salivary Gland Diseases / Q000235:genetics*; D013577:Syndrome
D000450:Aldosterone; D012083:Renin